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ArticlesPeer ReviewedFull Text
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
Author / Creator:Oriola, Josep ; Díez, Orland ; Mora, Mireia ; Halperin, Irene ; Martínez, Sandra ; Masas, Miriam ; Tenes, Anna ; Bernal, Anna ; Duran, Rafael ; Orois, Aida
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-10, Vol.61 (10), p.939-942
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ArticlesPeer ReviewedFull Text
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
Author / Creator:Clemente, María ; Cobo, Patricia ; Antolín, María ; Campos, Ariadna ; Yeste, Diego ; Tomasini, Rosangela ; Caimari, María ; Masas, Miriam ; García-Arumí, Elena ; Fernández-Cancio, Mónica ; Baz-Redón, Noelia ; Camats-Tarruella, Núria
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2023-11, Vol.108 (11), p.e1316-e1328
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ArticlesPeer ReviewedFull Text
Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8
Author / Creator:Clemente, María ; Cobo, Patricia ; Antolín, María ; Campos, Ariadna ; Yeste, Diego ; Tomasini, Rosangela ; Caimarí, María ; Masas, Miriam ; García-Arumí, Elena ; Fernandez-Cancio, Mónica ; Baz-Redón, Noelia ; Camats-Tarruella, Núria
Publisher:United States
Journal title:The journal of clinical endocrinology and metabolism, 2023-05
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ArticlesPeer ReviewedFull Text
Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
Author / Creator:Bonache, Sandra ; de la Hoya, Miguel ; Gutierrez-Enriquez, Sara ; Tenés, Anna ; Masas, Miriam ; Balmaña, Judith ; Diez, Orland
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of cancer research and clinical oncology, 2013-03, Vol.139 (3), p.529-532
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ArticlesPeer ReviewedFull Text
novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Mediano, Carmen ; Masas, Miriam ; Saura, Cristina ; Gadea, Neus ; Balmaña, Judith
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2010-05, Vol.121 (1), p.221-225
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ArticlesPeer ReviewedFull Text
variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts
Author / Creator:Gutiérrez-Enríquez, Sara ; Coderch, Verònica ; Masas, Miriam ; Balmaña, Judith ; Diez, Orland
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2009-09, Vol.117 (2), p.461-465
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ArticlesPeer ReviewedFull Text
Identification of a new complex deleterious mutation in exon 18 of the gene in a hereditary male/female breast cancer family
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Masas, Miriam ; Tenés, Anna ; Yagüe, Carme ; Arcusa, Angels ; Llort, Gemma
Publisher:Springer Verlag
Journal title:Breast cancer research and treatment, 2010-03, Vol.123 (2), p.587-590
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ArticlesPeer ReviewedFull Text
A novel de novo mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Mediano, Carmen ; Masas, Miriam ; Saura, Cristina ; Gadea, Neus ; Balmaña, Judith
Publisher:Springer Verlag
Journal title:Breast cancer research and treatment, 2009-08, Vol.121 (1), p.221-225
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ArticlesPeer ReviewedFull Text
Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Masas, Miriam ; Tenés, Anna ; Yagüe, Carme ; Arcusa, Angels ; Llort, Gemma
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2010-09, Vol.123 (2), p.587-590
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ArticlesPeer ReviewedFull Text
The variants IVS6-1G>A and IVS15+1G>A lead to aberrant splicing of the transcripts
Author / Creator:Gutiérrez-Enríquez, Sara ; Coderch, Verònica ; Masas, Miriam ; Balmaña, Judith ; Diez, Orland
Publisher:Springer Verlag
Journal title:Breast cancer research and treatment, 2008-08, Vol.117 (2), p.461-465
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Newsletter articlesFull Text
"En Chivas siempre queremos más, debemos de querer más": Miriam Castillo
Author / Creator:Camacho, Rodrigo
Publisher:Miami: ContentEngine LLC, a Florida limited liability company
Journal title:CE Noticias Financieras, 2021
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Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer

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Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

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Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8

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Mutation analysis of the SHFM1 gene in breast/ovarian cancer families

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novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

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variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts

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Identification of a new complex deleterious mutation in exon 18 of the gene in a hereditary male/female breast cancer family

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A novel de novo mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

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Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family

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The variants IVS6-1G>A and IVS15+1G>A lead to aberrant splicing of the transcripts

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"En Chivas siempre queremos más, debemos de querer más": Miriam Castillo

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